Normoreninemic hypoaldosteronism in a case of isolated ACTH deficiency

This paper documents the rare and hitherto unreported association between isolated ACTH deficiency and normoreninemic hypoaldosteronism in a 63-year-old woman. Baseline plasma aldosterone and 18-hydroxycorticosterone were extremely low. Both steroids did not respond to exogenous angiotensin II infusion, whereas they were increased in parallel to ACTH stimulation. Thus, acquired dysfunction or congenital dysgenesis of the zona glomerulosa was suspected. The upright posture-furosemide test showed a subnormal but definite plasma aldosterone response coupled with a normal increase in plasma renin activity, indicating that there may be a yet unidentified mechanism(s) underlying the postural increase of aldosterone.     

Primary empty sella with isolated ACTH deficiency and microprolactinoma

The empty sella turcica is defined as the herniation of the subarachnoid space within the sella with displacement of the pituitary towards the posteroinferior wall. By autopsy studies, the incidence in the general population is around 20%. The association of prolactinoma and empty sella has been coincidental & infrequently reported. As such for microadenoma, visual field testing and screening for hypopituitarism is not needed, but if it is associated with empty sella, both visual field testing and screening for hypopituitarism is necessary.     

Tall cell variant of papillary carcinoma coexisting with chronic lymphocytic thyroiditis. A case report.

BACKGROUND: Recent studies have shown a correlation between lymphocytic thyroiditis and papillary carcinoma of the thyroid. It is thought that autoimmune thyroiditis could be a risk factor for the development of thyroid carcinoma, mainly for the papillary variant. CASE: A 59-year-old female presented with a history of enlargement in the neck and five months of dysphagia. Clinical examination showed generalized expansion and an increase in the hardness of the thyroid gland. Hormonal outline showed subclinical hypothyroidism with serum levels of TSH slightly elevated (5 micrograms/dL; range, 0.25-4). Thyroglobulin antibodies and thyroperoxidase titers were moderately positive. Given these results, a diagnosis of chronic thyroiditis was made. Thyroid ultrasound scan showed diffuse gland irregularity and the presence of a solitary nodule (2.3 cm in diameter) localized in the right lobe. Fine needle aspiration biopsy (FNAB) of the nodule was performed under ultrasound guidance. CONCLUSION: Although clinical and laboratory results supported the diagnosis of autoimmune thyroiditis only, FNAB of the nodular lesion provided evidence of a rare case of papillary carcinoma, tall cell variant, confirmed by histologic results.     

Reports of two cases of selective adrenocorticotropin (ACTH) and growth hormone (GH) deficiency: differential diagnosis from cases with isolated ACTH deficiency associated with transient GH insufficiency

An acquired partial pituitary insufficiency with selective ACTH and GH deficiency was demonstrated in two men aged 47 and 54, for which the clinical course over many years corresponds to Addison's disease. In one of the 2 cases, antibodies to anterior pituitary cell membrane, assayed by an immunofluorescence method with GH3 cells (rat GH and prolactin secreting cell) and AtT-20 cells (mouse ACTH secreting cell) as antigens, were positive. We also present a 55-year-old man with isolated ACTH deficiency associated with transient GH deficiency. In this case, hydrocortisone replacement corrected his subnormal, pre-therapy GH response to insulin tolerance and glucagon propranolol tests, although there was no response of serum GH to L-dops and arginine stimulation test before therapy. Selective ACTH and GH deficiency are very rare and the finding of transient GH insufficiency in a patient with isolated ACTH deficiency suggests that repeated testing while on hydrocortisone replacement therapy is of great diagnostic importance in order to distinguish between selective ACTH and GH deficiency and isolated ACTH deficiency accompanied by transient GH insufficiency.     

A case of silent thyroiditis associated with idiopathic thrombocytopenic purpura

A 51-year-old woman had symptoms of thyrotoxicosis which disappeared spontaneously within two months. She was diagnosed as a case of silent thyroiditis on the basis of both the clinical course and the laboratory data such as low uptake of radioactive iodine and technesium. She also had petechiae in her arms which were diagnosed as an idiopathic thrombocytopenic purpura (I.T.P.). This case would seem to expand the spectrum of the coexistence of autoimmune thyroid diseases and I.T.P. which is believed to be an autoimmune disease.     

A Turkish case with molybdenum cofactor deficiency

Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.     

Isolated ACTH deficiency associated with transient thyrotoxicosis and hyperprolactinemia

A 43-year-old woman with isolated ACTH deficiency in association with transient thyrotoxicosis is reported. The initial evaluation revealed that plasma ACTH and cortisol did not respond to corticotropin-releasing hormone (CRH) in the presence of hyperthyroxinemia and hyperprolactinemia. During the replacement therapy with dexamethasone, she developed transient hypothyroxinemia with persistent hyperprolactinemia. Although thyroid open biopsy did not show any evidence of autoimmune thyroiditis or subacute thyroiditis, the data appear to provide other evidence of a possible relationship between acute adrenal insufficiency and transient thyroid dysfunction.     

A case study on Hashimoto's thyroiditis induced electrolyte imbalance

Lymphocytic thyroiditis is an autoimmune condition where auto-antibodies are produced against the thyroid gland. Initially, there might be a hyperthyroidism condition where T3 and T4 levels are high and external inflammation of thyroid gland might be seen, but over the course of time the destruction of thyroid gland can result in hypothyroidism where the complete destruction of thyroid gland. Electrolyte imbalances notably hypokalemia and hypomagnesemia with Hashimoto thyroiditis is a rare condition, in this article we will discuss about the course of treatment a 40-year-old female patient who presented with atypical symptoms of Hashimoto thyroiditis during her stay in the hospital.     

A case of Graves' disease with false hyperthyrotropinemia who developed silent thyroiditis.

We encountered a patient who developed silent thyroiditis during the course of Graves' disease. The diagnosis of silent thyroiditis was made on the basis of a low thyroidal 131I uptake, no response to the thyrotropin releasing hormone (TRH) test, and subsequent hypothyroidism despite the presence of high titers of thyrotropin (TSH) receptor antibody (TRAb) and thyroid stimulating antibody (TSAb). The patient, in addition, had a discrepancy between serum TSH and thyroid hormone values. This was due to the presence of interfering substances that react to mouse IgG in the sera since serum TSH levels were decreased in a dose dependent manner by the addition of increasing amounts of mouse IgG to the sera. It should therefore be noted that silent thyroiditis can develop in patients with Graves' disease. Furthermore, clinicians should be aware that two-site immunoassay kits that use mouse monoclonal antibodies are subject to interference by some substances, possibly antibodies which react to mouse IgG.     

Atrophic, autoimmune thyroiditis in infancy. A case report

Autoimmune thyroiditis in infancy is a very rare condition. Only 1 case has been reported previously. In the present patient an acquired primary hypothyroidism with high titers of thyroid microsomal antibodies was diagnosed at the age of 7 months. The patient died at 9 months of age in a sepsis-like condition. Autopsy revealed an atrophic thyroiditis. The more severe and complex clinical picture of autoimmune thyroiditis in infancy compared to that later in childhood is discussed.     

Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency

Background

Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency may be rare, but it could be an underestimated cause of neonatal death. Our objective was to shorten the time between first symptoms and diagnosis.

Methods

This single-centre retrospective case-cohort study was carried out on eight consecutive patients.

Results

Two had the neonatal form and 6 the late onset form. Six were admitted to an intensive care unit at least once for seizures with hypoglycemia, major hypothermia, fever, and/or collapsus. The 2 neonatal cases presented with hypoglycemia and in a state of “apparent death” at birth or hypothermia (29°C) at 6 days. All 6 late onset cases had also been admitted to an emergency department 1–3 times, but had left hospital incorrectly diagnosed. Their first symptoms were noted at 3–12.3 years, and they were diagnosed at 3.3–14.4 years. All had hypoglycemia, and 4 had had seizures. The presenting symptoms were vomiting and/or abdominal pain, asthenia, irritability, difficulty with physical activities, and anorexia. The school performance of 4 deteriorated. Two underwent psychotherapy and treatment for depression, which was stopped when Hydrocortisone® replacement therapy began.The plasma concentrations in spontaneous hypoglycemia were: ACTH<5 to 17.1 pg/mL, with concomitant cortisol <3.5 to 37 ng/mL. The plasma dehydroepiandrosterone sulfate (DHAS) concentrations were low in the 7 evaluated. The coding sequence of TPIT was normal in all.

Conclusion

Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and seizures due to hypoglycemia, may indicate ACTH deficiency. A low or normal basal plasma ACTH despite concomitant low cortisol at 8 a.m. and/or in spontaneous hypoglycemia, associated with low DHAS, in a patient not given corticosteroids is highly suggestive of ACTH deficiency. The isolated character of ACTH deficiency must be confirmed by determining the other hypothalamic-pituitary functions, and Hydrocortisone® replacement therapy initiated in emergency.     

Immunogenetic and ontogenetic studies of chickens with selective IgA deficiency and autoimmune thyroiditis

In addition to spontaneous hypothyroidism and autoimmune thyroiditis, chickens of the obese strain (OS) have a high incidence of selective IgA deficiency. Elevated levels of serum IgM also occur in many OS chickens. The IgA deficiency begins by 2 weeks, the age when hypothyroidism is developing. Like thyroiditis, a greater incidence of IgA deficiency was noted in OS birds homozygous for the B¹ allele than for the B⁴ allele of the major histocompatibility locus. Although IgA deficiency occurs in both sexes, it is found in a higher frequency in females than males (2:1). An abnormal ontogenesis of immunological competence may influence both traits.     

Significant fluctuation of thyroid function in children with chronic lymphocytic thyroiditis

In order to investigate the degree of pituitary reserve of TSH secretion and the fluctuation of thyroid function in children with chronic lymphocytic thyroiditis, TSH response to TRH was examined in 42 patients, and the thyroid function was carefully followed up in two patients retrospectively and in four prospectively. Increased basal TSH levels were revealed in seven patients (16.8%), and an exaggerated response of TSH to TRH loading in 15 (35.8%). We retrospectively observed spontaneous recovery of thyroid function in two cases. In one of them, two episodes of a transient decrease in thyroid function over a period of several years were noted. Prospectively, low normal T4, elevated TSH and normal T3 were detected in two cases at the first visit. Thereafter, TSH levels decreased to the normal range and the exaggerated response of TSH to TRH became normal. In two other cases, typical transient hypothyroidism occurred during the observation period. These fluctuations lasted for only a few months, and concomitant changes in the size of the thyroid gland were observed. No signs or symptoms suggesting viral infection were noted during the study period. Nor were changes in titers of thyroid auto-antibodies detected. These results show that the secretion of TSH is exaggerated and the thyroid function is decreased in adolescents with chronic lymphocytic thyroiditis, but the thyroid function may fluctuate from euthyroid to hypothyroid within a short period. The causes of these changes, especially of the transient hypothyroidism remain to be classified.